Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24543 | 73852;73853;73854 | chr2:178572505;178572504;178572503 | chr2:179437232;179437231;179437230 |
| N2AB | 22902 | 68929;68930;68931 | chr2:178572505;178572504;178572503 | chr2:179437232;179437231;179437230 |
| N2A | 21975 | 66148;66149;66150 | chr2:178572505;178572504;178572503 | chr2:179437232;179437231;179437230 |
| N2B | 15478 | 46657;46658;46659 | chr2:178572505;178572504;178572503 | chr2:179437232;179437231;179437230 |
| Novex-1 | 15603 | 47032;47033;47034 | chr2:178572505;178572504;178572503 | chr2:179437232;179437231;179437230 |
| Novex-2 | 15670 | 47233;47234;47235 | chr2:178572505;178572504;178572503 | chr2:179437232;179437231;179437230 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 1.0 | D | 0.817 | 0.517 | 0.53129368577 | gnomAD-4.0.0 | 4.8013E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25002E-06 | 0 | 0 |
| P/R | None | None | 1.0 | D | 0.888 | 0.577 | 0.597153157781 | gnomAD-4.0.0 | 1.59221E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4334E-05 | 0 |
| P/S | rs1277675236  |
None | 1.0 | N | 0.837 | 0.471 | 0.513560046879 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/S | rs1277675236 |
None | 1.0 | N | 0.837 | 0.471 | 0.513560046879 | gnomAD-4.0.0 | 7.10529E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.43475E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8944 | likely_pathogenic | 0.8168 | pathogenic | -2.07 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.526364156 | None | None | N |
| P/C | 0.9876 | likely_pathogenic | 0.9778 | pathogenic | -1.453 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9987 | pathogenic | -2.582 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/E | 0.9989 | likely_pathogenic | 0.9972 | pathogenic | -2.468 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9989 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/G | 0.9943 | likely_pathogenic | 0.9874 | pathogenic | -2.516 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/H | 0.9981 | likely_pathogenic | 0.9946 | pathogenic | -2.244 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.568359564 | None | None | N |
| P/I | 0.994 | likely_pathogenic | 0.9864 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/K | 0.9995 | likely_pathogenic | 0.9986 | pathogenic | -1.908 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/L | 0.9777 | likely_pathogenic | 0.9521 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.548480882 | None | None | N |
| P/M | 0.9974 | likely_pathogenic | 0.994 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/N | 0.999 | likely_pathogenic | 0.9977 | pathogenic | -1.923 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/Q | 0.998 | likely_pathogenic | 0.9944 | pathogenic | -1.94 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/R | 0.9979 | likely_pathogenic | 0.995 | pathogenic | -1.481 | Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.528605882 | None | None | N |
| P/S | 0.9811 | likely_pathogenic | 0.9586 | pathogenic | -2.456 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.510475173 | None | None | N |
| P/T | 0.9842 | likely_pathogenic | 0.9636 | pathogenic | -2.224 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.533365595 | None | None | N |
| P/V | 0.975 | likely_pathogenic | 0.9525 | pathogenic | -1.241 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -1.832 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9989 | pathogenic | -1.512 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.